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Discussion topics to consider with your patients with phenylketonuria

Managing phenylketonuria (PKU) can be challenging for your patients and their caregivers

Compliance with dietary management, regular monitoring of blood phenylalanine (Phe) levels, clinic appointments, and the mental and emotional stress of living with a chronic disorder can make maintaining blood Phe levels within the recommended range more difficult for patients over time. Helping patients and caregivers talk openly about their challenges living with phenylketonuria (PKU) may keep them engaged.1-4

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Question boxes icon

Patients may experience PKU symptoms of high blood Phe levels without even knowing it5,6

Consider asking your patients about their experiences living with and managing PKU, such as details about work, school, and social relationships

Rates of anxiety disorders and depression are higher in the PKU population compared with the general population7-9

Consider asking your patients if there are situations where they are struggling with work, school, or personal relationships

Impairments in executive function have been correlated with deficits in communication skills and social relationships7

Consider asking your patients if they are experiencing feelings of social isolation

PKU management can be challenging for many patients

Consider asking your patients about their top 2 to 3 issues that they struggle with

Many adults with PKU have elevated blood Phe levels on existing management

Could your patients be struggling to control their Phe?

Regular checks of blood Phe image icon
Regular checks of blood Phe image icon

A survey of 44 clinics covering more than 3000 patients with PKU found that of adults ≥18 years of age6

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Percent blocks

Some helpful tools for assessing PKU symptoms

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PKU Symptom Tracker

Document how symptoms are affecting people with PKU

Depression, anxiety, stress test icon

Impact of High Phe

Understand how the effects of high blood Phe levels vary from person to person

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Clinic Discussion Guide

Help people with PKU find their optimal management plan

Learn more about PKU

Patients with PKU medical comorbidities icon

Did you know? Patients with PKU also have a higher risk of medical comorbidities

Dietary control with PKU icon

Learn more about PKU dietary control and supplementation

Stay connected with the latest PKU information

Register below to connect with a BioMarin representative, learn about upcoming PKU events and news, or request a peer-to-peer discussion.

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  1. Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab. 2010;101(2-3):99-109.
  2. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines of phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. doi: 10.1186/s13023-017-0685-22.
  3. Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Gen Metab Rep. 2018;16:39-45.
  4. Thomas J, Nguyen-Driver M, Bausell H, Breck J, Zambrano J, Birardi V. Strategies for successful long-term engagement of adults with phenylalanine hydroxylase deficiency returning to the clinic. J Inborn Errors Metab Screen. 2017;5:1-9.
  5. Vockley J, Andersson HC, Antshel KM, et al; American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guidelines. Genet Med. 2014;16(2):188-200.
  6. Jurecki ER, Cederbaum S, Kopesky J, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab. 2017;120(3):190-197.
  7. Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments. Front Psychiatry. 2019;10:561. doi:10.3389/fpsyt.2019.00561.
  8. Bilder DA, Noel JK, Baker ER, et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria. Dev Neuropsychol. 2016;41(4):245-260.
  9. Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Neuropsychiatric comorbidities in adults with phenylketonuria: a retrospective cohort study. Mol Genet Metab. 2017;12(1):1-8.
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